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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunodeficiency 40
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Accession:DOID:0111951 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: DOCK2 deficiency;   IMD40
 primary_id: OMIM:616433
 xref: GARD:12653;   ORDO:447737
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar
PMID:25741868 PMID:26083206 PMID:28492532 PMID:29204803 NCBI chr10:19,181,512...19,603,171 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        combined immunodeficiency 148
          combined T cell and B cell immunodeficiency 55
            immunodeficiency 40 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                immunodeficiency 40 1
paths to the root